Variant report

Variant	rs10229718
Chromosome Location	chr7:137616282-137616283
allele	A/C
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	chr7:137616164-137616322	K562	blood:	n/a	n/a
2	POLR2A	chr7:137616083-137616530	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:137615597..137618364-chr7:137618491..137620760,2	K562	blood:
2	chr7:137601426..137603845-chr7:137616116..137618626,2	K562	blood:
3	chr7:137600305..137602461-chr7:137615591..137618449,2	MCF-7	breast:

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10254813	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10257051	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10263198	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10274570	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17169455	1.00[EUR][1000 genomes]
rs56384334	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73729525	0.83[EUR][1000 genomes]
rs73729526	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73729527	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9656495	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv5964	chr7:137599451-137616300	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:137588800-137620200	Weak transcription	Dnd41	blood
3	chr7:137594600-137618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:137598800-137617000	Weak transcription	Small Intestine	intestine
5	chr7:137600200-137618400	Weak transcription	Fetal Thymus	thymus
6	chr7:137603200-137617600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:137605200-137618000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:137605800-137618400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:137606400-137619000	Weak transcription	Primary T cells from cord blood	blood
10	chr7:137606600-137617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:137606600-137617600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:137610800-137617200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:137611000-137617400	Weak transcription	Fetal Heart	heart
14	chr7:137611400-137620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:137611600-137616800	Weak transcription	Fetal Kidney	kidney
16	chr7:137611600-137617200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:137611800-137618200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:137612000-137617800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:137612000-137618400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:137612000-137620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:137612600-137617200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:137612600-137617600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:137612800-137618200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:137612800-137620400	Weak transcription	Fetal Lung	lung
25	chr7:137613000-137617400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:137613000-137617400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:137613000-137617400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:137613000-137617400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:137613000-137617400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:137613000-137617600	Weak transcription	Esophagus	oesophagus
31	chr7:137613000-137617600	Weak transcription	Lung	lung
32	chr7:137613000-137617800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:137613000-137617800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:137613000-137617800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:137613000-137618000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:137613000-137618000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:137613000-137618400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:137613000-137618400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:137613000-137619200	Weak transcription	Thymus	Thymus
40	chr7:137613000-137621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:137613200-137617200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:137613200-137617200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr7:137613200-137617200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:137613200-137617200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:137613200-137617200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:137613200-137617400	Weak transcription	Brain Angular Gyrus	brain
47	chr7:137613200-137617400	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:137613200-137617600	Weak transcription	Brain Anterior Caudate	brain
49	chr7:137613200-137617600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:137613200-137618600	Weak transcription	Colonic Mucosa	Colon

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