Variant report

Variant	rs72671835
Chromosome Location	chr4:106631356-106631357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr4:106631034-106631730	K562	blood:	n/a	n/a
2	POLR2A	chr4:106630791-106632708	K562	blood:	n/a	n/a
3	RFX5	chr4:106628987-106632419	SK-N-SH	brain:	n/a	chr4:106629352-106629361 chr4:106630732-106630749 chr4:106631958-106631972 chr4:106631963-106631971 chr4:106631960-106631969 chr4:106631957-106631972

No.	Distal block	Cell Line	Cell type
1	chr4:106394755..106397717-chr4:106629970..106632343,2	MCF-7	breast:
2	chr4:106393199..106396342-chr4:106628328..106631625,4	K562	blood:
3	chr4:106393678..106396634-chr4:106628055..106631625,3	K562	blood:
4	chr4:106628554..106633489-chr4:106634205..106639726,8	K562	blood:

Variant related genes	Relation type
INTS12	TF binding region
GSTCD	TF binding region
ENSG00000138777	Chromatin interaction
ENSG00000138780	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10050159	0.83[EUR][1000 genomes]
rs10050333	0.83[EUR][1000 genomes]
rs10516525	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10516526	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10516527	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10516528	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10516529	0.81[EUR][1000 genomes]
rs11097901	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11722225	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11723225	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11723240	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11723639	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11724839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11724884	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11726094	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11726124	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11726569	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11726674	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11727189	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727348	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11727500	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11727735	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727745	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11728044	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11728716	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11728918	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11729003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11730354	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11730365	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11730660	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11731386	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11731417	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11731714	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11731938	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11732298	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11732629	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11732650	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11733093	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11733124	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11733150	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11733223	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11733225	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11733287	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11733654	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11734568	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11734571	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11735527	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11735851	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11736834	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11736859	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11737335	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11737741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12374256	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17036066	0.81[EUR][1000 genomes]
rs17036090	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17036105	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036120	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036123	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036125	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036129	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036156	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036177	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036189	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036225	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036230	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036258	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17036292	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17036308	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17036310	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17036327	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17036337	0.84[AMR][1000 genomes]
rs17036341	0.81[EUR][1000 genomes]
rs17331332	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28488297	0.83[EUR][1000 genomes]
rs34072732	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35370743	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35808787	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4373160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58775257	0.81[EUR][1000 genomes]
rs67277942	0.81[EUR][1000 genomes]
rs72669992	0.83[EUR][1000 genomes]
rs72669993	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72669995	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72669997	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72669998	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72670002	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72671805	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671808	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671809	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671810	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671811	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671815	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671820	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671824	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671826	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671828	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671852	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72671854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671855	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671858	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671861	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671862	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671863	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671866	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671870	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671873	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671874	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671878	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671879	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671880	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671881	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671885	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671886	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671889	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671892	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671895	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671896	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673803	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673805	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673811	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673812	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673813	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673817	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673821	0.89[AMR][1000 genomes]
rs72673822	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673823	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673824	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673828	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673831	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673832	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673834	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673853	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673855	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673858	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673860	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673865	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673870	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673872	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673873	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673888	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72673889	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72673890	0.80[AMR][1000 genomes]
rs72673891	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7676975	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106628600-106631800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:106628800-106631400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr4:106628800-106631400	Active TSS	A549	lung
4	chr4:106628800-106631600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:106628800-106631800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr4:106628800-106631800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr4:106629000-106631400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:106629000-106631400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:106629000-106631400	Active TSS	NHLF	lung
10	chr4:106629000-106631800	Active TSS	HMEC	breast
11	chr4:106629000-106632200	Active TSS	K562	blood
12	chr4:106630400-106631400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:106630400-106632200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:106630600-106631400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:106630600-106631400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:106630600-106631400	Flanking Active TSS	Dnd41	blood
17	chr4:106630600-106641800	Weak transcription	Lung	lung
18	chr4:106630600-106642800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:106630600-106650600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:106630600-106656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:106630600-106656200	Weak transcription	Esophagus	oesophagus
22	chr4:106630800-106631400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr4:106630800-106631400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:106630800-106631400	Enhancers	HSMMtube	muscle
25	chr4:106630800-106631800	Active TSS	HepG2	liver
26	chr4:106630800-106633400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:106630800-106634400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr4:106630800-106634600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:106630800-106635200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:106630800-106635200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:106630800-106635400	Weak transcription	Aorta	Aorta
32	chr4:106630800-106640000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:106630800-106640000	Weak transcription	Placenta	Placenta
34	chr4:106630800-106640400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:106630800-106640600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:106630800-106648000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr4:106630800-106649200	Weak transcription	Small Intestine	intestine
38	chr4:106630800-106656000	Weak transcription	Ovary	ovary
39	chr4:106630800-106656200	Weak transcription	Left Ventricle	heart
40	chr4:106630800-106656200	Weak transcription	Thymus	Thymus
41	chr4:106630800-106658400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:106631000-106631400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:106631000-106631400	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:106631000-106631400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr4:106631000-106631400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:106631000-106631400	Flanking Active TSS	NHEK	skin
47	chr4:106631000-106631600	Enhancers	Fetal Brain Male	brain
48	chr4:106631000-106631800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr4:106631000-106631800	Weak transcription	Fetal Kidney	kidney
50	chr4:106631000-106632000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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