Variant report

Variant	rs76986107
Chromosome Location	chr7:39606686-39606687
allele	C/G
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	MAX	chr7:39605363-39606686	NB4	blood:	n/a	n/a
2	IRF1	chr7:39605505-39606689	K562	blood:	n/a	chr7:39606649-39606660 chr7:39606649-39606663 chr7:39606648-39606662 chr7:39606651-39606665 chr7:39606647-39606661
3	STAT3	chr7:39606390-39606706	MCF10A-Er-Src	breast:	n/a	chr7:39606650-39606661
4	POLR2A	chr7:39605039-39606825	MCF10A-Er-Src	breast:	n/a	n/a
5	HCFC1	chr7:39605177-39606969	Hela-S3	cervix:	n/a	n/a
6	GABPA	chr7:39605226-39606693	A549	lung:	n/a	n/a
7	REST	chr7:39605339-39606785	H1-neurons	neurons:	n/a	chr7:39606167-39606177
8	POLR2A	chr7:39605345-39606755	GM12878	blood:	n/a	n/a
9	MXI1	chr7:39604938-39607300	SK-N-SH	brain:	n/a	n/a
10	GABPA	chr7:39605325-39606803	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:39605403-39606690	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:39606377-39606751	GM12878	blood:	n/a	n/a
13	GABPA	chr7:39605480-39606758	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:39604710..39608797-chr7:39663149..39665225,4	K562	blood:
2	chr7:39605618..39607861-chr7:39772706..39774759,2	K562	blood:
3	chr7:39605012..39607338-chr7:39986740..39989686,2	K562	blood:
4	chr7:39605969..39608430-chr7:39663149..39665540,3	K562	blood:
5	chr7:39606078..39608053-chr7:39609216..39613025,4	MCF-7	breast:

Variant related genes	Relation type
YAE1D1	TF binding region
ENSG00000227172	TF binding region
ENSG00000241127	Chromatin interaction
ENSG00000236015	Chromatin interaction
ENSG00000259826	Chromatin interaction
ENSG00000188185	Chromatin interaction
ENSG00000006451	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv970467	chr7:39605971-39615006	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39605000-39606800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:39605000-39606800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:39605000-39606800	Active TSS	Aorta	Aorta
4	chr7:39605000-39606800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:39605000-39606800	Active TSS	GM12878-XiMat	blood
6	chr7:39605000-39606800	Active TSS	HMEC	breast
7	chr7:39605000-39606800	Active TSS	K562	blood
8	chr7:39605000-39607000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:39605000-39607000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr7:39605000-39607000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:39605000-39607000	Active TSS	Fetal Kidney	kidney
12	chr7:39605000-39607000	Active TSS	NHDF-Ad	bronchial
13	chr7:39605000-39607200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:39605000-39607200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:39605000-39607200	Active TSS	Rectal Smooth Muscle	rectum
16	chr7:39605000-39607400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:39605000-39607600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr7:39605000-39607600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr7:39605000-39607600	Active TSS	A549	lung
20	chr7:39605000-39607600	Active TSS	NHLF	lung
21	chr7:39605200-39606800	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr7:39605200-39606800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:39605200-39606800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:39605200-39606800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:39605200-39606800	Active TSS	Brain Hippocampus Middle	brain
26	chr7:39605200-39606800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:39605200-39606800	ZNF genes & repeats	Fetal Brain Male	brain
28	chr7:39605200-39606800	Active TSS	Fetal Muscle Leg	muscle
29	chr7:39605200-39606800	Active TSS	Fetal Stomach	stomach
30	chr7:39605200-39606800	Active TSS	Fetal Thymus	thymus
31	chr7:39605200-39606800	Active TSS	Stomach Mucosa	stomach
32	chr7:39605200-39606800	Active TSS	Thymus	Thymus
33	chr7:39605200-39607000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:39605200-39607000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:39605200-39607000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:39605200-39607000	Active TSS	Fetal Intestine Large	intestine
37	chr7:39605200-39607000	Active TSS	Fetal Intestine Small	intestine
38	chr7:39605200-39607000	Active TSS	Ovary	ovary
39	chr7:39605200-39607000	Active TSS	Right Atrium	heart
40	chr7:39605200-39607000	Active TSS	Right Ventricle	heart
41	chr7:39605200-39607200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr7:39605200-39607200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr7:39605200-39607200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:39605200-39607200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:39605200-39607200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:39605200-39607200	Active TSS	Fetal Muscle Trunk	muscle
47	chr7:39605200-39607200	Active TSS	Psoas Muscle	Psoas
48	chr7:39605200-39607200	Active TSS	Stomach Smooth Muscle	stomach
49	chr7:39605200-39607200	Active TSS	HSMM	muscle
50	chr7:39605200-39607400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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