Variant report

Variant	rs72671861
Chromosome Location	chr4:106648865-106648866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106637736..106640243-chr4:106646399..106648948,2	K562	blood:
2	chr4:106646087..106647814-chr4:106648864..106651165,2	K562	blood:

Variant related genes	Relation type
ENSG00000138780	Chromatin interaction

Extended variants
information (count: 157 )
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	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10516527	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10516528	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	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11723240	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11723639	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11724839	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11724884	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	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11726674	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11727189	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727348	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11727500	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11727735	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727745	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11728044	0.91[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	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11729003	0.91[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	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11730660	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11731386	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11731417	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11731714	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11731938	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11732298	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	0.96[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	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11733654	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11734568	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11734571	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11735527	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	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11737335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11737741	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12374256	0.91[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	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036123	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036125	0.91[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036156	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036177	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036189	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036225	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036230	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	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	0.91[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	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	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671808	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671809	0.91[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	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671815	0.91[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	0.91[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	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671835	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671836	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671837	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671840	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671844	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671849	0.91[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72671854	0.91[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671858	0.96[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	0.91[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	0.91[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	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671878	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671879	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671880	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671881	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671885	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671886	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671889	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671892	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671895	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671896	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673803	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673805	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673811	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673812	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673813	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673817	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	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673828	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673831	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:2 , 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
2	nsv879700	chr4:106643445-106745057	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106630600-106650600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:106630600-106656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:106630600-106656200	Weak transcription	Esophagus	oesophagus
4	chr4:106630800-106649200	Weak transcription	Small Intestine	intestine
5	chr4:106630800-106656000	Weak transcription	Ovary	ovary
6	chr4:106630800-106656200	Weak transcription	Left Ventricle	heart
7	chr4:106630800-106656200	Weak transcription	Thymus	Thymus
8	chr4:106630800-106658400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:106631000-106650600	Weak transcription	Fetal Brain Female	brain
10	chr4:106631000-106654600	Weak transcription	Fetal Intestine Large	intestine
11	chr4:106631000-106656000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:106631000-106656200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:106631000-106658200	Weak transcription	Right Ventricle	heart
14	chr4:106631000-106659000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:106631000-106663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:106631200-106651800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:106631400-106656000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:106631400-106658800	Weak transcription	A549	lung
20	chr4:106634000-106655800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:106634000-106655800	Weak transcription	Liver	Liver
22	chr4:106634000-106693200	Weak transcription	K562	blood
23	chr4:106634600-106656200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:106635600-106651200	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:106635600-106651600	Weak transcription	NHLF	lung
26	chr4:106635600-106655600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr4:106635600-106656200	Weak transcription	Aorta	Aorta
28	chr4:106635600-106656200	Weak transcription	Brain Anterior Caudate	brain
29	chr4:106635600-106656800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:106635600-106658400	Weak transcription	Osteobl	bone
31	chr4:106635600-106665000	Weak transcription	HUVEC	blood vessel
32	chr4:106635600-106669800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:106636200-106658800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:106636400-106650000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:106636400-106650600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:106636400-106651600	Weak transcription	HMEC	breast
37	chr4:106636400-106651600	Weak transcription	NHDF-Ad	bronchial
38	chr4:106636400-106653200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:106636400-106656800	Weak transcription	NHEK	skin
40	chr4:106637200-106660800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:106637800-106656200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:106638800-106650000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:106639000-106649000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:106640000-106649200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:106640400-106650000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:106640800-106649000	Weak transcription	HepG2	liver
47	chr4:106640800-106649200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:106640800-106656000	Weak transcription	Fetal Stomach	stomach
49	chr4:106640800-106656200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:106641000-106651800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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