Variant report

Variant	rs10244204
Chromosome Location	chr7:66200144-66200145
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66198882..66202892-chr7:66203782..66206309,4	K562	blood:
2	chr7:66199744..66203174-chr7:66203641..66207564,4	MCF-7	breast:
3	chr7:66198882..66201423-chr7:66203889..66205689,3	K562	blood:
4	chr7:66194758..66197486-chr7:66199792..66202230,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154710	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000272831	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10236434	1.00[AMR][1000 genomes]
rs10248036	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10250162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10266087	1.00[AMR][1000 genomes]
rs10266166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279154	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11980472	1.00[EUR][1000 genomes]
rs28436055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438866	1.00[EUR][1000 genomes]
rs28525579	1.00[EUR][1000 genomes]
rs28619031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28649220	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28671466	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58669678	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58739839	1.00[EUR][1000 genomes]
rs59775164	1.00[EUR][1000 genomes]
rs61603694	1.00[EUR][1000 genomes]
rs73699843	1.00[EUR][1000 genomes]
rs73700311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702140	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv3385090	chr7:66146376-66205022	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3401338	chr7:66147493-66206298	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv971490	chr7:66192193-66212423	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66165400-66204600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:66176400-66204600	Weak transcription	Colonic Mucosa	Colon
3	chr7:66178600-66200400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:66179200-66200600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:66179600-66204600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:66181600-66202000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:66182800-66205000	Weak transcription	Gastric	stomach
8	chr7:66188400-66201800	Weak transcription	Fetal Brain Male	brain
9	chr7:66190000-66200400	Weak transcription	HepG2	liver
10	chr7:66190000-66201200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr7:66190400-66204600	Weak transcription	Stomach Mucosa	stomach
12	chr7:66190600-66200200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:66190600-66201200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:66190800-66200200	Weak transcription	Brain Anterior Caudate	brain
15	chr7:66190800-66200400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:66190800-66200600	Weak transcription	HSMM	muscle
17	chr7:66190800-66204400	Weak transcription	Fetal Heart	heart
18	chr7:66190800-66204600	Weak transcription	NHEK	skin
19	chr7:66191000-66200400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:66191000-66200600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:66191000-66200600	Weak transcription	Brain Angular Gyrus	brain
22	chr7:66191200-66200200	Weak transcription	Primary B cells from cord blood	blood
23	chr7:66191200-66200400	Weak transcription	Aorta	Aorta
24	chr7:66191200-66200400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:66191200-66200400	Weak transcription	Dnd41	blood
26	chr7:66191200-66204600	Weak transcription	NHLF	lung
27	chr7:66191200-66205000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:66191400-66200200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:66191400-66200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:66191400-66200600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:66191400-66204600	Weak transcription	Primary T cells from cord blood	blood
32	chr7:66191600-66204600	Weak transcription	NHDF-Ad	bronchial
33	chr7:66191800-66204800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:66192600-66200200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:66193800-66200200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:66193800-66200400	Weak transcription	Fetal Lung	lung
37	chr7:66193800-66200800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:66193800-66204800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:66194000-66200200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:66194000-66200400	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:66194000-66200800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:66194000-66204800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:66194000-66205000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:66194000-66205000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:66194600-66204600	Weak transcription	Fetal Kidney	kidney
46	chr7:66194600-66205000	Weak transcription	Spleen	Spleen
47	chr7:66195200-66200400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:66195400-66200400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:66195600-66200400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:66195600-66200400	Weak transcription	Fetal Brain Female	brain

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