Variant report

Variant	rs531071438
Chromosome Location	chr4:129731606-129731607
allele	-/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	CREB1	chr4:129731606-129732781	HepG2	liver:	n/a	n/a
2	CHD1	chr4:129730550-129733472	H1-hESC	embryonic stem cell:	n/a	chr4:129732389-129732399 chr4:129733422-129733432 chr4:129733260-129733270 chr4:129733062-129733072
3	MXI1	chr4:129730257-129734736	IMR90	lung:	n/a	n/a
4	POLR2A	chr4:129731569-129732813	GM12891	blood:	n/a	n/a
5	POLR2A	chr4:129730532-129734022	HCT-116	colon:	n/a	n/a
6	POLR2A	chr4:129731513-129734064	GM12892	blood:	n/a	n/a
7	POLR2A	chr4:129730561-129734095	K562	blood:	n/a	n/a
8	RUNX3	chr4:129731075-129733957	GM12878	blood:	n/a	n/a
9	CEBPD	chr4:129731592-129732836	K562	blood:	n/a	n/a
10	RCOR1	chr4:129731279-129733593	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:129730506-129734115	K562	blood:	n/a	n/a
12	POLR2A	chr4:129731261-129734094	K562	blood:	n/a	n/a
13	ZBTB7A	chr4:129730462-129731678	ECC-1	luminal epithelium:	n/a	chr4:129731474-129731488
14	CTCF	chr4:129731540-129731690	HCPEpiC	choroid plexus:	n/a	n/a
15	POLR2A	chr4:129730599-129734478	GM18505	blood:	n/a	n/a
16	RELA	chr4:129730601-129734033	GM12891	blood:	n/a	n/a
17	POLR2A	chr4:129730637-129734008	GM12878	blood:	n/a	n/a
18	ATF2	chr4:129731142-129731783	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:129730510-129734063	Raji	blood:	n/a	n/a
20	POLR2A	chr4:129731586-129731877	GM12878	blood:	n/a	n/a
21	MYC	chr4:129730573-129733589	Hela-S3	cervix:	n/a	chr4:129732622-129732632 chr4:129732621-129732632 chr4:129732618-129732633 chr4:129732623-129732630 chr4:129732622-129732631 chr4:129732396-129732406 chr4:129733335-129733345 chr4:129733276-129733286
22	POLR2A	chr4:129731549-129732767	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr4:129730519-129731751	PBDE	blood:	n/a	n/a
24	CTCF	chr4:129731540-129731690	SK-N-SH_RA	brain:	n/a	n/a
25	POLR2A	chr4:129730623-129734071	GM12891	blood:	n/a	n/a
26	TCF12	chr4:129730492-129734183	A549	lung:	n/a	chr4:129733244-129733251
27	POLR2A	chr4:129731590-129731878	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr4:129731600-129731750	HPAF	blood vessel:	n/a	n/a
29	MAX	chr4:129730407-129734144	A549	lung:	n/a	chr4:129732622-129732632 chr4:129732621-129732632 chr4:129732618-129732633 chr4:129732623-129732630 chr4:129732622-129732631 chr4:129732396-129732406 chr4:129733335-129733345 chr4:129733276-129733286
30	POLR2A	chr4:129730629-129733969	NB4	blood:	n/a	n/a
31	NFIC	chr4:129731155-129732732	GM12878	blood:	n/a	n/a
32	RAD21	chr4:129731581-129731877	SK-N-SH_RA	brain:	n/a	n/a
33	POLR2A	chr4:129731559-129732790	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr4:129730691-129734532	HepG2	liver:	n/a	n/a
35	CTCF	chr4:129731600-129731750	GM12878	blood:	n/a	n/a
36	CREB1	chr4:129730514-129732046	K562	blood:	n/a	n/a
37	RAD21	chr4:129730297-129732679	SK-N-SH	brain:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
38	POLR2A	chr4:129730677-129734001	HEK293	kidney:	n/a	n/a
39	FOXM1	chr4:129731076-129731645	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:129730580-129734093	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr4:129730627-129734362	K562	blood:	n/a	n/a
42	MYC	chr4:129730637-129733882	K562	blood:	n/a	chr4:129732622-129732632 chr4:129732621-129732632 chr4:129732618-129732633 chr4:129732623-129732630 chr4:129732622-129732631 chr4:129732396-129732406 chr4:129733335-129733345 chr4:129733276-129733286
43	ARID3A	chr4:129730583-129731709	HepG2	liver:	n/a	chr4:129731284-129731292
44	POLR2A	chr4:129730545-129734031	GM15510	blood:	n/a	n/a
45	RFX5	chr4:129731197-129731687	K562	blood:	n/a	n/a
46	POLR2A	chr4:129730583-129734283	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr4:129730563-129731902	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:129730573-129731937	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr4:129730530-129734657	IMR90	lung:	n/a	n/a
50	POLR2A	chr4:129730644-129734442	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228352349..228353216-chr4:129731096..129731690,2	Hela-S3	cervix:
2	chr4:129375160..129378617-chr4:129730147..129733611,3	MCF-7	breast:
3	chr4:128980795..128984031-chr4:129730059..129735028,7	K562	blood:
4	chr4:129471355..129474956-chr4:129730853..129734024,4	MCF-7	breast:
5	chr4:129208294..129210116-chr4:129731375..129734707,3	MCF-7	breast:
6	chr4:129374782..129377512-chr4:129729521..129732215,3	K562	blood:
7	chr11:62608655..62609419-chr4:129731014..129731869,3	Hela-S3	cervix:
8	chr4:129391462..129394361-chr4:129730843..129732581,2	K562	blood:
9	chr4:128980795..128982891-chr4:129730267..129732892,3	K562	blood:
10	chr4:129521846..129523851-chr4:129730837..129734105,3	K562	blood:
11	chr16:402353..402985-chr4:129731353..129732296,2	Hela-S3	cervix:
12	chr4:129488526..129491708-chr4:129730813..129734421,3	K562	blood:
13	chr4:129491375..129494260-chr4:129730648..129733095,2	MCF-7	breast:
14	chr4:129206178..129209498-chr4:129731212..129733921,5	K562	blood:
15	chr4:129518963..129527383-chr4:129727996..129735335,14	K562	blood:
16	chr4:129206178..129209105-chr4:129728853..129732712,4	K562	blood:
17	chr4:129731326..129732115-chr6:26158771..26159658,2	Hela-S3	cervix:
18	chr4:129473168..129475213-chr4:129730479..129732295,2	K562	blood:
19	chr4:129209335..129213237-chr4:129730288..129733311,3	K562	blood:
20	chr4:129730547..129732304-chr4:129732580..129735331,2	MCF-7	breast:
21	chr4:129376012..129378140-chr4:129729596..129731686,2	K562	blood:
22	chr4:129731357..129734214-chr4:129752200..129753715,2	K562	blood:
23	chr4:129472659..129478043-chr4:129729703..129733779,4	K562	blood:
24	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:

Variant related genes	Relation type
JADE1	TF binding region
ENSG00000164040	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000248187	Chromatin interaction
ENSG00000151466	Chromatin interaction
ENSG00000103126	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000138709	Chromatin interaction
ENSG00000273077	Chromatin interaction
ENSG00000151470	Chromatin interaction
ENSG00000251432	Chromatin interaction
ENSG00000248802	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv822717	chr4:129724785-129739862	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a
5	esv3340336	chr4:129730252-129734500	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a
6	esv3321753	chr4:129731527-129734875	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129730000-129734000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr4:129730200-129734200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:129730200-129734200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:129730200-129734200	Active TSS	K562	blood
5	chr4:129730200-129734400	Active TSS	NHDF-Ad	bronchial
6	chr4:129730400-129732000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:129730400-129732000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:129730400-129732000	Active TSS	Placenta	Placenta
9	chr4:129730400-129732000	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr4:129730400-129732000	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr4:129730400-129732200	Active TSS	Right Atrium	heart
12	chr4:129730400-129733600	Active TSS	Primary T cells fromperipheralblood	blood
13	chr4:129730400-129733600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:129730400-129733600	Active TSS	Thymus	Thymus
15	chr4:129730400-129733800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:129730400-129733800	Active TSS	Primary T cells from cord blood	blood
17	chr4:129730400-129733800	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr4:129730400-129733800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:129730400-129733800	Active TSS	Brain Cingulate Gyrus	brain
20	chr4:129730400-129733800	Active TSS	Brain Hippocampus Middle	brain
21	chr4:129730400-129733800	Active TSS	Fetal Brain Female	brain
22	chr4:129730400-129733800	Active TSS	Fetal Kidney	kidney
23	chr4:129730400-129733800	Active TSS	Fetal Muscle Leg	muscle
24	chr4:129730400-129733800	Active TSS	Fetal Thymus	thymus
25	chr4:129730400-129733800	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr4:129730400-129733800	Active TSS	Stomach Smooth Muscle	stomach
27	chr4:129730400-129733800	Active TSS	Osteobl	bone
28	chr4:129730400-129734000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:129730400-129734000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:129730400-129734000	Active TSS	Fetal Intestine Large	intestine
31	chr4:129730400-129734000	Active TSS	Pancreas	Pancrea
32	chr4:129730400-129734000	Active TSS	Rectal Smooth Muscle	rectum
33	chr4:129730400-129734000	Active TSS	NHEK	skin
34	chr4:129730400-129734200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:129730400-129734200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:129730400-129734200	Active TSS	Brain Angular Gyrus	brain
37	chr4:129730400-129734200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr4:129730400-129734200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:129730400-129734200	Active TSS	Brain Substantia Nigra	brain
40	chr4:129730400-129734200	Active TSS	Colon Smooth Muscle	Colon
41	chr4:129730400-129734200	Active TSS	Fetal Muscle Trunk	muscle
42	chr4:129730400-129734200	Active TSS	Left Ventricle	heart
43	chr4:129730400-129734200	Active TSS	Ovary	ovary
44	chr4:129730400-129734200	Active TSS	HSMM	muscle
45	chr4:129730400-129734200	Active TSS	HSMMtube	muscle
46	chr4:129730400-129734400	Active TSS	Brain Anterior Caudate	brain
47	chr4:129730400-129734400	Active TSS	Psoas Muscle	Psoas
48	chr4:129730400-129734400	Active TSS	GM12878-XiMat	blood
49	chr4:129730400-129734400	Active TSS	HMEC	breast
50	chr4:129730400-129734400	Active TSS	NH-A	brain

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